Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.99862305T>ACA419095442AGLc.342T>A (p.Arg114=)
n.553T>A
c.294T>A (p.Arg98=)
c.291T>A (p.Arg97=)
1g.99862305T>CCA419095445AGLc.342T>C (p.Arg114=)
n.553T>C
c.294T>C (p.Arg98=)
c.291T>C (p.Arg97=)
1g.99862305T>GCA419095448AGLc.342T>G (p.Arg114=)
n.553T>G
c.294T>G (p.Arg98=)
c.291T>G (p.Arg97=)
1g.99862306G>ACA341331077AGLc.343G>A (p.Val115Ile)
n.554G>A
c.295G>A (p.Val99Ile)
c.292G>A (p.Val98Ile)
1g.99862306G>CCA341331079AGLc.343G>C (p.Val115Leu)
n.554G>C
c.295G>C (p.Val99Leu)
c.292G>C (p.Val98Leu)
1g.99862306G>TCA341331096AGLc.343G>T (p.Val115Phe)
n.554G>T
c.295G>T (p.Val99Phe)
c.292G>T (p.Val98Phe)
 gnomAD v4
1g.99862306_99862332delinsGTTGGTGCTGATAATCATGTGCTACCCCA1183924345AGLc.343_369delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val115=)
n.554_580delinsGTTGGTGCTGATAATCATGTGCTACCC
c.295_321delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val99=)
c.292_318delinsGTTGGTGCTGATAATCATGTGCTACCC (p.Val98=)
1g.99862307T>ACA341331123AGLc.344T>A (p.Val115Asp)
n.555T>A
c.296T>A (p.Val99Asp)
c.293T>A (p.Val98Asp)
 gnomAD v4
1g.99862307T>CCA966141AGLc.344T>C (p.Val115Ala)
n.555T>C
c.296T>C (p.Val99Ala)
c.293T>C (p.Val98Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862307T>GCA341331124AGLc.344T>G (p.Val115Gly)
n.555T>G
c.296T>G (p.Val99Gly)
c.293T>G (p.Val98Gly)
1g.99862307T=CA1147339744AGLc.344T= (p.Val115=)
n.555T=
c.296T= (p.Val99=)
c.293T= (p.Val98=)
1g.99862311_99862336delCA16040824AGLc.348_373del (p.Ala117LeufsTer10)
n.559_584del
c.300_325del (p.Ala101LeufsTer10)
c.297_322del (p.Ala100LeufsTer10)
 ClinVar dbSNP
1g.99862308T>ACA419095480AGLc.345T>A (p.Val115=)
n.556T>A
c.297T>A (p.Val99=)
c.294T>A (p.Val98=)
1g.99862308T>CCA419095474AGLc.345T>C (p.Val115=)
n.556T>C
c.297T>C (p.Val99=)
c.294T>C (p.Val98=)
1g.99862308T>GCA419095479AGLc.345T>G (p.Val115=)
n.556T>G
c.297T>G (p.Val99=)
c.294T>G (p.Val98=)
1g.99862309G>ACA341331129AGLc.346G>A (p.Gly116Ser)
n.557G>A
c.298G>A (p.Gly100Ser)
c.295G>A (p.Gly99Ser)
1g.99862309G>CCA341331136AGLc.346G>C (p.Gly116Arg)
n.557G>C
c.298G>C (p.Gly100Arg)
c.295G>C (p.Gly99Arg)
 dbSNP
1g.99862309G>TCA341331149AGLc.346G>T (p.Gly116Cys)
n.557G>T
c.298G>T (p.Gly100Cys)
c.295G>T (p.Gly99Cys)
1g.99862310G>ACA966142AGLc.347G>A (p.Gly116Asp)
n.558G>A
c.299G>A (p.Gly100Asp)
c.296G>A (p.Gly99Asp)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862310G>CCA341331176AGLc.347G>C (p.Gly116Ala)
n.558G>C
c.299G>C (p.Gly100Ala)
c.296G>C (p.Gly99Ala)
 gnomAD v4
1g.99862310G=CA1183924356AGLc.347G= (p.Gly116=)
n.558G=
c.299G= (p.Gly100=)
c.296G= (p.Gly99=)
1g.99862310G>TCA341331192AGLc.347G>T (p.Gly116Val)
n.558G>T
c.299G>T (p.Gly100Val)
c.296G>T (p.Gly99Val)
 gnomAD v4
1g.99862311T>ACA419095492AGLc.348T>A (p.Gly116=)
n.559T>A
c.300T>A (p.Gly100=)
c.297T>A (p.Gly99=)
1g.99862311T>CCA419095500AGLc.348T>C (p.Gly116=)
n.559T>C
c.300T>C (p.Gly100=)
c.297T>C (p.Gly99=)
1g.99862311T>GCA419095502AGLc.348T>G (p.Gly116=)
n.559T>G
c.300T>G (p.Gly100=)
c.297T>G (p.Gly99=)
1g.99862312G>ACA341331197AGLc.349G>A (p.Ala117Thr)
n.560G>A
c.301G>A (p.Ala101Thr)
c.298G>A (p.Ala100Thr)
1g.99862312G>CCA341331198AGLc.349G>C (p.Ala117Pro)
n.560G>C
c.301G>C (p.Ala101Pro)
c.298G>C (p.Ala100Pro)
1g.99862312G>TCA341331199AGLc.349G>T (p.Ala117Ser)
n.560G>T
c.301G>T (p.Ala101Ser)
c.298G>T (p.Ala100Ser)
1g.99862313C>ACA341331205AGLc.350C>A (p.Ala117Asp)
n.561C>A
c.302C>A (p.Ala101Asp)
c.299C>A (p.Ala100Asp)
 COSMIC COSMIC
1g.99862313C>GCA341331211AGLc.350C>G (p.Ala117Gly)
n.561C>G
c.302C>G (p.Ala101Gly)
c.299C>G (p.Ala100Gly)
1g.99862313C>TCA341331203AGLc.350C>T (p.Ala117Val)
n.561C>T
c.302C>T (p.Ala101Val)
c.299C>T (p.Ala100Val)
1g.99862314T>ACA419095512AGLc.351T>A (p.Ala117=)
n.562T>A
c.303T>A (p.Ala101=)
c.300T>A (p.Ala100=)
1g.99862314T>CCA419095513AGLc.351T>C (p.Ala117=)
n.562T>C
c.303T>C (p.Ala101=)
c.300T>C (p.Ala100=)
 ClinVar
1g.99862314T>GCA419095516AGLc.351T>G (p.Ala117=)
n.562T>G
c.303T>G (p.Ala101=)
c.300T>G (p.Ala100=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862314T=CA1183924360AGLc.351T= (p.Ala117=)
n.562T=
c.303T= (p.Ala101=)
c.300T= (p.Ala100=)
1g.99862315G>ACA341331212AGLc.352G>A (p.Asp118Asn)
n.563G>A
c.304G>A (p.Asp102Asn)
c.301G>A (p.Asp101Asn)
 gnomAD v4
1g.99862315G>CCA341331215AGLc.352G>C (p.Asp118His)
n.563G>C
c.304G>C (p.Asp102His)
c.301G>C (p.Asp101His)
 dbSNP gnomAD v2
1g.99862315G=CA1183924364AGLc.352G= (p.Asp118=)
n.563G=
c.304G= (p.Asp102=)
c.301G= (p.Asp101=)
1g.99862315G>TCA341331223AGLc.352G>T (p.Asp118Tyr)
n.563G>T
c.304G>T (p.Asp102Tyr)
c.301G>T (p.Asp101Tyr)
1g.99862316A>CCA341331230AGLc.353A>C (p.Asp118Ala)
n.564A>C
c.305A>C (p.Asp102Ala)
c.302A>C (p.Asp101Ala)
1g.99862316A>GCA341331242AGLc.353A>G (p.Asp118Gly)
n.564A>G
c.305A>G (p.Asp102Gly)
c.302A>G (p.Asp101Gly)
1g.99862316A>TCA341331247AGLc.353A>T (p.Asp118Val)
n.564A>T
c.305A>T (p.Asp102Val)
c.302A>T (p.Asp101Val)
1g.99862317T>ACA341331249AGLc.354T>A (p.Asp118Glu)
n.565T>A
c.306T>A (p.Asp102Glu)
c.303T>A (p.Asp101Glu)
1g.99862317T>CCA419095535AGLc.354T>C (p.Asp118=)
n.565T>C
c.306T>C (p.Asp102=)
c.303T>C (p.Asp101=)
1g.99862317T>GCA341331248AGLc.354T>G (p.Asp118Glu)
n.565T>G
c.306T>G (p.Asp102Glu)
c.303T>G (p.Asp101Glu)
1g.99862318A>CCA341331253AGLc.355A>C (p.Asn119His)
n.566A>C
c.307A>C (p.Asn103His)
c.304A>C (p.Asn102His)
1g.99862318A>GCA341331265AGLc.355A>G (p.Asn119Asp)
n.566A>G
c.307A>G (p.Asn103Asp)
c.304A>G (p.Asn102Asp)
1g.99862318A>TCA341331271AGLc.355A>T (p.Asn119Tyr)
n.566A>T
c.307A>T (p.Asn103Tyr)
c.304A>T (p.Asn102Tyr)
1g.99862319A=CA1183924370AGLc.356A= (p.Asn119=)
n.567A=
c.308A= (p.Asn103=)
c.305A= (p.Asn102=)
1g.99862319A>CCA341331277AGLc.356A>C (p.Asn119Thr)
n.567A>C
c.308A>C (p.Asn103Thr)
c.305A>C (p.Asn102Thr)
1g.99862319A>GCA341331282AGLc.356A>G (p.Asn119Ser)
n.567A>G
c.308A>G (p.Asn103Ser)
c.305A>G (p.Asn102Ser)
 dbSNP gnomAD v3 gnomAD v4
1g.99862319A>TCA341331292AGLc.356A>T (p.Asn119Ile)
n.567A>T
c.308A>T (p.Asn103Ile)
c.305A>T (p.Asn102Ile)
1g.99862320T>ACA341331312AGLc.357T>A (p.Asn119Lys)
n.568T>A
c.309T>A (p.Asn103Lys)
c.306T>A (p.Asn102Lys)
1g.99862320T>CCA966143AGLc.357T>C (p.Asn119=)
n.568T>C
c.309T>C (p.Asn103=)
c.306T>C (p.Asn102=)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862320T>GCA341331337AGLc.357T>G (p.Asn119Lys)
n.568T>G
c.309T>G (p.Asn103Lys)
c.306T>G (p.Asn102Lys)
1g.99862320T=CA1183924373AGLc.357T= (p.Asn119=)
n.568T=
c.309T= (p.Asn103=)
c.306T= (p.Asn102=)
1g.99862321C>ACA341331351AGLc.358C>A (p.His120Asn)
n.569C>A
c.310C>A (p.His104Asn)
c.307C>A (p.His103Asn)
1g.99862321C=CA1183924377AGLc.358C= (p.His120=)
n.569C=
c.310C= (p.His104=)
c.307C= (p.His103=)
1g.99862321C>GCA341331366AGLc.358C>G (p.His120Asp)
n.569C>G
c.310C>G (p.His104Asp)
c.307C>G (p.His103Asp)
1g.99862321C>TCA341331370AGLc.358C>T (p.His120Tyr)
n.569C>T
c.310C>T (p.His104Tyr)
c.307C>T (p.His103Tyr)
 dbSNP gnomAD v2 gnomAD v4
1g.99862322A=CA1183924379AGLc.359A= (p.His120=)
n.570A=
c.311A= (p.His104=)
c.308A= (p.His103=)
1g.99862322A>CCA341331371AGLc.359A>C (p.His120Pro)
n.570A>C
c.311A>C (p.His104Pro)
c.308A>C (p.His103Pro)
1g.99862322A>GCA966144AGLc.359A>G (p.His120Arg)
n.570A>G
c.311A>G (p.His104Arg)
c.308A>G (p.His103Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862322A>TCA341331378AGLc.359A>T (p.His120Leu)
n.570A>T
c.311A>T (p.His104Leu)
c.308A>T (p.His103Leu)
1g.99862322_99862323delCA2586967069AGLc.359_360del (p.His120ArgfsTer15)
n.570_571del
c.311_312del (p.His104ArgfsTer15)
c.308_309del (p.His103ArgfsTer15)
1g.99862323T>ACA341331386AGLc.360T>A (p.His120Gln)
n.571T>A
c.312T>A (p.His104Gln)
c.309T>A (p.His103Gln)
1g.99862323T>CCA966145AGLc.360T>C (p.His120=)
n.571T>C
c.312T>C (p.His104=)
c.309T>C (p.His103=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862323T>GCA341331416AGLc.360T>G (p.His120Gln)
n.571T>G
c.312T>G (p.His104Gln)
c.309T>G (p.His103Gln)
1g.99862323T=CA1183924382AGLc.360T= (p.His120=)
n.571T=
c.312T= (p.His104=)
c.309T= (p.His103=)
1g.99862324G>ACA341331420AGLc.361G>A (p.Val121Met)
n.572G>A
c.313G>A (p.Val105Met)
c.310G>A (p.Val104Met)
1g.99862324G>CCA341331422AGLc.361G>C (p.Val121Leu)
n.572G>C
c.313G>C (p.Val105Leu)
c.310G>C (p.Val104Leu)
1g.99862324G=CA1183924386AGLc.361G= (p.Val121=)
n.572G=
c.313G= (p.Val105=)
c.310G= (p.Val104=)
1g.99862324G>TCA966146AGLc.361G>T (p.Val121Leu)
n.572G>T
c.313G>T (p.Val105Leu)
c.310G>T (p.Val104Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862325T>ACA341331433AGLc.362T>A (p.Val121Glu)
n.573T>A
c.314T>A (p.Val105Glu)
c.311T>A (p.Val104Glu)
 dbSNP gnomAD v2 gnomAD v4
1g.99862325T>CCA341331435AGLc.362T>C (p.Val121Ala)
n.573T>C
c.314T>C (p.Val105Ala)
c.311T>C (p.Val104Ala)
1g.99862325T>GCA341331434AGLc.362T>G (p.Val121Gly)
n.573T>G
c.314T>G (p.Val105Gly)
c.311T>G (p.Val104Gly)
 dbSNP gnomAD v2 gnomAD v4
1g.99862325T=CA1183924389AGLc.362T= (p.Val121=)
n.573T=
c.314T= (p.Val105=)
c.311T= (p.Val104=)
1g.99862326G>ACA419095596AGLc.363G>A (p.Val121=)
n.574G>A
c.315G>A (p.Val105=)
c.312G>A (p.Val104=)
 dbSNP
1g.99862326G>CCA419095598AGLc.363G>C (p.Val121=)
n.574G>C
c.315G>C (p.Val105=)
c.312G>C (p.Val104=)
1g.99862326G=CA1183924392AGLc.363G= (p.Val121=)
n.574G=
c.315G= (p.Val105=)
c.312G= (p.Val104=)
1g.99862326G>TCA419095600AGLc.363G>T (p.Val121=)
n.574G>T
c.315G>T (p.Val105=)
c.312G>T (p.Val104=)
1g.99862327C>ACA341331436AGLc.364C>A (p.Leu122Ile)
n.575C>A
c.316C>A (p.Leu106Ile)
c.313C>A (p.Leu105Ile)
1g.99862327C>GCA341331451AGLc.364C>G (p.Leu122Val)
n.575C>G
c.316C>G (p.Leu106Val)
c.313C>G (p.Leu105Val)
1g.99862327C>TCA419095606AGLc.364C>T (p.Leu122=)
n.575C>T
c.316C>T (p.Leu106=)
c.313C>T (p.Leu105=)
1g.99862327_99862328dupCA2586967070AGLc.364_365dup (p.Pro123TyrfsTer12)
n.575_576dup
c.316_317dup (p.Pro107TyrfsTer12)
c.313_314dup (p.Pro106TyrfsTer12)
1g.99862328T>ACA341331455AGLc.365T>A (p.Leu122Gln)
n.576T>A
c.317T>A (p.Leu106Gln)
c.314T>A (p.Leu105Gln)
1g.99862328T>CCA341331459AGLc.365T>C (p.Leu122Pro)
n.576T>C
c.317T>C (p.Leu106Pro)
c.314T>C (p.Leu105Pro)
 ClinVar dbSNP
1g.99862328T>GCA341331457AGLc.365T>G (p.Leu122Arg)
n.576T>G
c.317T>G (p.Leu106Arg)
c.314T>G (p.Leu105Arg)
1g.99862328T=CA1183924398AGLc.365T= (p.Leu122=)
n.576T=
c.317T= (p.Leu106=)
c.314T= (p.Leu105=)
1g.99862329A=CA1183924401AGLc.366A= (p.Leu122=)
n.577A=
c.318A= (p.Leu106=)
c.315A= (p.Leu105=)
1g.99862329A>CCA419095607AGLc.366A>C (p.Leu122=)
n.577A>C
c.318A>C (p.Leu106=)
c.315A>C (p.Leu105=)
1g.99862329A>GCA419095608AGLc.366A>G (p.Leu122=)
n.577A>G
c.318A>G (p.Leu106=)
c.315A>G (p.Leu105=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862329A>TCA419095610AGLc.366A>T (p.Leu122=)
n.577A>T
c.318A>T (p.Leu106=)
c.315A>T (p.Leu105=)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862330C>ACA341331465AGLc.367C>A (p.Pro123Thr)
n.578C>A
c.319C>A (p.Pro107Thr)
c.316C>A (p.Pro106Thr)
1g.99862330C=CA1143879974AGLc.367C= (p.Pro123=)
n.578C=
c.319C= (p.Pro107=)
c.316C= (p.Pro106=)
1g.99862330C>GCA966147AGLc.367C>G (p.Pro123Ala)
n.578C>G
c.319C>G (p.Pro107Ala)
c.316C>G (p.Pro106Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862330C>TCA341331490AGLc.367C>T (p.Pro123Ser)
n.578C>T
c.319C>T (p.Pro107Ser)
c.316C>T (p.Pro106Ser)
1g.99862331C>ACA966149AGLc.368C>A (p.Pro123His)
n.579C>A
c.320C>A (p.Pro107His)
c.317C>A (p.Pro106His)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862331C=CA1141628639AGLc.368C= (p.Pro123=)
n.579C=
c.320C= (p.Pro107=)
c.317C= (p.Pro106=)
1g.99862331C>GCA341331495AGLc.368C>G (p.Pro123Arg)
n.579C>G
c.320C>G (p.Pro107Arg)
c.317C>G (p.Pro106Arg)
 dbSNP
1g.99862331C>TCA966148AGLc.368C>T (p.Pro123Leu)
n.579C>T
c.320C>T (p.Pro107Leu)
c.317C>T (p.Pro106Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862332C>ACA419095618AGLc.369C>A (p.Pro123=)
n.580C>A
c.321C>A (p.Pro107=)
c.318C>A (p.Pro106=)
1g.99862332C>GCA419095619AGLc.369C>G (p.Pro123=)
n.580C>G
c.321C>G (p.Pro107=)
c.318C>G (p.Pro106=)
1g.99862332C>TCA419095620AGLc.369C>T (p.Pro123=)
n.580C>T
c.321C>T (p.Pro107=)
c.318C>T (p.Pro106=)
 ClinVar
1g.99862333T>ACA341331500AGLc.370T>A (p.Leu124Met)
n.581T>A
c.322T>A (p.Leu108Met)
c.319T>A (p.Leu107Met)
1g.99862333T>CCA419095621AGLc.370T>C (p.Leu124=)
n.581T>C
c.322T>C (p.Leu108=)
c.319T>C (p.Leu107=)
1g.99862333T>GCA341331540AGLc.370T>G (p.Leu124Val)
n.581T>G
c.322T>G (p.Leu108Val)
c.319T>G (p.Leu107Val)
1g.99862334T>ACA341331556AGLc.371T>A (p.Leu124Ter)
n.582T>A
c.323T>A (p.Leu108Ter)
c.320T>A (p.Leu107Ter)
 dbSNP gnomAD v4
1g.99862334T>CCA341331557AGLc.371T>C (p.Leu124Ser)
n.582T>C
c.323T>C (p.Leu108Ser)
c.320T>C (p.Leu107Ser)
1g.99862334T>GCA341331558AGLc.371T>G (p.Leu124Trp)
n.582T>G
c.323T>G (p.Leu108Trp)
c.320T>G (p.Leu107Trp)
1g.99862335G>ACA419095627AGLc.372G>A (p.Leu124=)
n.583G>A
c.324G>A (p.Leu108=)
c.321G>A (p.Leu107=)
 ClinVar dbSNP gnomAD v4
1g.99862335G>CCA341331563AGLc.372G>C (p.Leu124Phe)
n.583G>C
c.324G>C (p.Leu108Phe)
c.321G>C (p.Leu107Phe)
1g.99862335G=CA1183924417AGLc.372G= (p.Leu124=)
n.583G=
c.324G= (p.Leu108=)
c.321G= (p.Leu107=)
1g.99862335G>TCA341331560AGLc.372G>T (p.Leu124Phe)
n.583G>T
c.324G>T (p.Leu108Phe)
c.321G>T (p.Leu107Phe)
1g.99862336G>ACA966150AGLc.373G>A (p.Asp125Asn)
n.584G>A
c.325G>A (p.Asp109Asn)
c.322G>A (p.Asp108Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862336G>CCA341331601AGLc.373G>C (p.Asp125His)
n.584G>C
c.325G>C (p.Asp109His)
c.322G>C (p.Asp108His)
1g.99862336G=CA1183924419AGLc.373G= (p.Asp125=)
n.584G=
c.325G= (p.Asp109=)
c.322G= (p.Asp108=)
1g.99862336G>TCA341331614AGLc.373G>T (p.Asp125Tyr)
n.584G>T
c.325G>T (p.Asp109Tyr)
c.322G>T (p.Asp108Tyr)
1g.99862337A>CCA341331642AGLc.374A>C (p.Asp125Ala)
n.585A>C
c.326A>C (p.Asp109Ala)
c.323A>C (p.Asp108Ala)
1g.99862337A>GCA341331651AGLc.374A>G (p.Asp125Gly)
n.585A>G
c.326A>G (p.Asp109Gly)
c.323A>G (p.Asp108Gly)
1g.99862337A>TCA341331655AGLc.374A>T (p.Asp125Val)
n.585A>T
c.326A>T (p.Asp109Val)
c.323A>T (p.Asp108Val)
1g.99862338C>ACA341331657AGLc.375C>A (p.Asp125Glu)
n.586C>A
c.327C>A (p.Asp109Glu)
c.324C>A (p.Asp108Glu)
1g.99862338C>GCA341331658AGLc.375C>G (p.Asp125Glu)
n.586C>G
c.327C>G (p.Asp109Glu)
c.324C>G (p.Asp108Glu)
1g.99862338C>TCA419095639AGLc.375C>T (p.Asp125=)
n.586C>T
c.327C>T (p.Asp109=)
c.324C>T (p.Asp108=)
1g.99862339T>ACA341331663AGLc.376T>A (p.Cys126Ser)
n.587T>A
c.328T>A (p.Cys110Ser)
c.325T>A (p.Cys109Ser)
1g.99862339T>CCA341331666AGLc.376T>C (p.Cys126Arg)
n.587T>C
c.328T>C (p.Cys110Arg)
c.325T>C (p.Cys109Arg)
1g.99862339T>GCA341331676AGLc.376T>G (p.Cys126Gly)
n.587T>G
c.328T>G (p.Cys110Gly)
c.325T>G (p.Cys109Gly)
1g.99862342_99862343delCA2646735360AGLc.379_380del (p.Val127TyrfsTer8)
n.590_591del
c.331_332del (p.Val111TyrfsTer8)
c.328_329del (p.Val110TyrfsTer8)
 gnomAD v4
1g.99862340G>ACA966151AGLc.377G>A (p.Cys126Tyr)
n.588G>A
c.329G>A (p.Cys110Tyr)
c.326G>A (p.Cys109Tyr)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862340G>CCA341331702AGLc.377G>C (p.Cys126Ser)
n.588G>C
c.329G>C (p.Cys110Ser)
c.326G>C (p.Cys109Ser)
1g.99862340G=CA1146800851AGLc.377G= (p.Cys126=)
n.588G=
c.329G= (p.Cys110=)
c.326G= (p.Cys109=)
1g.99862340G>TCA341331696AGLc.377G>T (p.Cys126Phe)
n.588G>T
c.329G>T (p.Cys110Phe)
c.326G>T (p.Cys109Phe)
 gnomAD v4
1g.99862341T>ACA341331715AGLc.378T>A (p.Cys126Ter)
n.589T>A
c.330T>A (p.Cys110Ter)
c.327T>A (p.Cys109Ter)
 ClinVar dbSNP
1g.99862341T>CCA419095657AGLc.378T>C (p.Cys126=)
n.589T>C
c.330T>C (p.Cys110=)
c.327T>C (p.Cys109=)
1g.99862341T>GCA341331717AGLc.378T>G (p.Cys126Trp)
n.589T>G
c.330T>G (p.Cys110Trp)
c.327T>G (p.Cys109Trp)
1g.99862341T=CA1183924426AGLc.378T= (p.Cys126=)
n.589T=
c.330T= (p.Cys110=)
c.327T= (p.Cys109=)
1g.99862342G>ACA341331719AGLc.379G>A (p.Val127Ile)
n.590G>A
c.331G>A (p.Val111Ile)
c.328G>A (p.Val110Ile)
1g.99862342G>CCA341331728AGLc.379G>C (p.Val127Leu)
n.590G>C
c.331G>C (p.Val111Leu)
c.328G>C (p.Val110Leu)
1g.99862342G>TCA341331730AGLc.379G>T (p.Val127Phe)
n.590G>T
c.331G>T (p.Val111Phe)
c.328G>T (p.Val110Phe)
1g.99862342_99862345dupCA2574444262AGLc.379_382dup (p.Thr128SerfsTer9)
n.590_593dup
c.331_334dup (p.Thr112SerfsTer9)
c.328_331dup (p.Thr111SerfsTer9)
1g.99862343T>ACA341331750AGLc.380T>A (p.Val127Asp)
n.591T>A
c.332T>A (p.Val111Asp)
c.329T>A (p.Val110Asp)
1g.99862343T>CCA341331748AGLc.380T>C (p.Val127Ala)
n.591T>C
c.332T>C (p.Val111Ala)
c.329T>C (p.Val110Ala)
1g.99862343T>GCA341331746AGLc.380T>G (p.Val127Gly)
n.591T>G
c.332T>G (p.Val111Gly)
c.329T>G (p.Val110Gly)
1g.99862344T>ACA419095674AGLc.381T>A (p.Val127=)
n.592T>A
c.333T>A (p.Val111=)
c.330T>A (p.Val110=)
1g.99862344T>CCA419095683AGLc.381T>C (p.Val127=)
n.592T>C
c.333T>C (p.Val111=)
c.330T>C (p.Val110=)
1g.99862344T>GCA419095676AGLc.381T>G (p.Val127=)
n.592T>G
c.333T>G (p.Val111=)
c.330T>G (p.Val110=)
1g.99862345A>CCA341331754AGLc.382A>C (p.Thr128Pro)
n.593A>C
c.334A>C (p.Thr112Pro)
c.331A>C (p.Thr111Pro)
1g.99862345A>GCA341331755AGLc.382A>G (p.Thr128Ala)
n.593A>G
c.334A>G (p.Thr112Ala)
c.331A>G (p.Thr111Ala)
1g.99862345A>TCA341331756AGLc.382A>T (p.Thr128Ser)
n.593A>T
c.334A>T (p.Thr112Ser)
c.331A>T (p.Thr111Ser)
1g.99862345dupCA2739272687AGLc.382dup (p.Thr128AsnfsTer8)
n.593dup
c.334dup (p.Thr112AsnfsTer8)
c.331dup (p.Thr111AsnfsTer8)
 ClinVar
1g.99862346C>ACA341331757AGLc.383C>A (p.Thr128Asn)
n.594C>A
c.335C>A (p.Thr112Asn)
c.332C>A (p.Thr111Asn)
1g.99862346C>GCA341331760AGLc.383C>G (p.Thr128Ser)
n.594C>G
c.335C>G (p.Thr112Ser)
c.332C>G (p.Thr111Ser)
1g.99862346C>TCA341331766AGLc.383C>T (p.Thr128Ile)
n.594C>T
c.335C>T (p.Thr112Ile)
c.332C>T (p.Thr111Ile)
1g.99862347T>ACA419095695AGLc.384T>A (p.Thr128=)
n.595T>A
c.336T>A (p.Thr112=)
c.333T>A (p.Thr111=)
1g.99862347T>CCA419095698AGLc.384T>C (p.Thr128=)
n.595T>C
c.336T>C (p.Thr112=)
c.333T>C (p.Thr111=)
 ClinVar dbSNP
1g.99862347T>GCA419095696AGLc.384T>G (p.Thr128=)
n.595T>G
c.336T>G (p.Thr112=)
c.333T>G (p.Thr111=)
1g.99862347T=CA1183924433AGLc.384T= (p.Thr128=)
n.595T=
c.336T= (p.Thr112=)
c.333T= (p.Thr111=)
1g.99862348C>ACA341331787AGLc.385C>A (p.Leu129Ile)
n.596C>A
c.337C>A (p.Leu113Ile)
c.334C>A (p.Leu112Ile)
1g.99862348C=CA1149065661AGLc.385C= (p.Leu129=)
n.596C=
c.337C= (p.Leu113=)
c.334C= (p.Leu112=)
1g.99862348C>GCA966152AGLc.385C>G (p.Leu129Val)
n.596C>G
c.337C>G (p.Leu113Val)
c.334C>G (p.Leu112Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862348C>TCA27561383AGLc.385C>T (p.Leu129Phe)
n.596C>T
c.337C>T (p.Leu113Phe)
c.334C>T (p.Leu112Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862349T>ACA341331799AGLc.386T>A (p.Leu129His)
n.597T>A
c.338T>A (p.Leu113His)
c.335T>A (p.Leu112His)
1g.99862349T>CCA341331800AGLc.386T>C (p.Leu129Pro)
n.597T>C
c.338T>C (p.Leu113Pro)
c.335T>C (p.Leu112Pro)
1g.99862349T>GCA341331801AGLc.386T>G (p.Leu129Arg)
n.597T>G
c.338T>G (p.Leu113Arg)
c.335T>G (p.Leu112Arg)
1g.99862350T>ACA419095703AGLc.387T>A (p.Leu129=)
n.598T>A
c.339T>A (p.Leu113=)
c.336T>A (p.Leu112=)
1g.99862350T>CCA419095706AGLc.387T>C (p.Leu129=)
n.598T>C
c.339T>C (p.Leu113=)
c.336T>C (p.Leu112=)
1g.99862350T>GCA419095708AGLc.387T>G (p.Leu129=)
n.598T>G
c.339T>G (p.Leu113=)
c.336T>G (p.Leu112=)
1g.99862351C>ACA341331811AGLc.388C>A (p.Gln130Lys)
n.599C>A
c.340C>A (p.Gln114Lys)
c.337C>A (p.Gln113Lys)
1g.99862351C=CA1183924450AGLc.388C= (p.Gln130=)
n.599C=
c.340C= (p.Gln114=)
c.337C= (p.Gln113=)
1g.99862351C>GCA341331820AGLc.388C>G (p.Gln130Glu)
n.599C>G
c.340C>G (p.Gln114Glu)
c.337C>G (p.Gln113Glu)
 gnomAD v4
1g.99862351C>TCA341331824AGLc.388C>T (p.Gln130Ter)
n.599C>T
c.340C>T (p.Gln114Ter)
c.337C>T (p.Gln113Ter)
 ClinVar dbSNP gnomAD v2
1g.99862352A>CCA341331862AGLc.389A>C (p.Gln130Pro)
n.600A>C
c.341A>C (p.Gln114Pro)
c.338A>C (p.Gln113Pro)
1g.99862352A>GCA341331869AGLc.389A>G (p.Gln130Arg)
n.600A>G
c.341A>G (p.Gln114Arg)
c.338A>G (p.Gln113Arg)
1g.99862352A>TCA341331879AGLc.389A>T (p.Gln130Leu)
n.600A>T
c.341A>T (p.Gln114Leu)
c.338A>T (p.Gln113Leu)
1g.99862353G>ACA419095725AGLc.390G>A (p.Gln130=)
n.601G>A
c.342G>A (p.Gln114=)
c.339G>A (p.Gln113=)
1g.99862353G>CCA341331881AGLc.390G>C (p.Gln130His)
n.601G>C
c.342G>C (p.Gln114His)
c.339G>C (p.Gln113His)
 dbSNP gnomAD v3 gnomAD v4
1g.99862353G=CA1183924455AGLc.390G= (p.Gln130=)
n.601G=
c.342G= (p.Gln114=)
c.339G= (p.Gln113=)
1g.99862353G>TCA341331883AGLc.390G>T (p.Gln130His)
n.601G>T
c.342G>T (p.Gln114His)
c.339G>T (p.Gln113His)
1g.99862354A>CCA341331907AGLc.391A>C (p.Thr131Pro)
n.602A>C
c.343A>C (p.Thr115Pro)
c.340A>C (p.Thr114Pro)
1g.99862354A>GCA341331891AGLc.391A>G (p.Thr131Ala)
n.602A>G
c.343A>G (p.Thr115Ala)
c.340A>G (p.Thr114Ala)
1g.99862354A>TCA341331888AGLc.391A>T (p.Thr131Ser)
n.602A>T
c.343A>T (p.Thr115Ser)
c.340A>T (p.Thr114Ser)
1g.99862355C>ACA341331920AGLc.392C>A (p.Thr131Lys)
n.603C>A
c.344C>A (p.Thr115Lys)
c.341C>A (p.Thr114Lys)
1g.99862355C>GCA341331928AGLc.392C>G (p.Thr131Arg)
n.603C>G
c.344C>G (p.Thr115Arg)
c.341C>G (p.Thr114Arg)
1g.99862355C>TCA341331924AGLc.392C>T (p.Thr131Ile)
n.603C>T
c.344C>T (p.Thr115Ile)
c.341C>T (p.Thr114Ile)
1g.99862356A=CA1183924459AGLc.393A= (p.Thr131=)
n.604A=
c.345A= (p.Thr115=)
c.342A= (p.Thr114=)
1g.99862356A>CCA419095751AGLc.393A>C (p.Thr131=)
n.604A>C
c.345A>C (p.Thr115=)
c.342A>C (p.Thr114=)
1g.99862356A>GCA966153AGLc.393A>G (p.Thr131=)
n.604A>G
c.345A>G (p.Thr115=)
c.342A>G (p.Thr114=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862356A>TCA419095752AGLc.393A>T (p.Thr131=)
n.604A>T
c.345A>T (p.Thr115=)
c.342A>T (p.Thr114=)
1g.99862356_99862357delinsATCA1183924460AGLc.393_394delinsAT (p.Thr131=)
n.604_605delinsAT
c.345_346delinsAT (p.Thr115=)
c.342_343delinsAT (p.Thr114=)
1g.99862357T>ACA341331933AGLc.394T>A (p.Phe132Ile)
n.605T>A
c.346T>A (p.Phe116Ile)
c.343T>A (p.Phe115Ile)
1g.99862357T>CCA341331939AGLc.394T>C (p.Phe132Leu)
n.605T>C
c.346T>C (p.Phe116Leu)
c.343T>C (p.Phe115Leu)
1g.99862357T>GCA341331948AGLc.394T>G (p.Phe132Val)
n.605T>G
c.346T>G (p.Phe116Val)
c.343T>G (p.Phe115Val)
1g.99862357_99862361delinsTTTTTCA1148466845AGLc.394_398delinsTTTTT (p.Phe132=)
n.605_609delinsTTTTT
c.346_350delinsTTTTT (p.Phe116=)
c.343_347delinsTTTTT (p.Phe115=)
1g.99862361delCA966154AGLc.398del (p.Leu133Ter)
n.609del
c.350del (p.Leu117Ter)
c.347del (p.Leu116Ter)
 dbSNP ExAC
1g.99862358T>ACA341331969AGLc.395T>A (p.Phe132Tyr)
n.606T>A
c.347T>A (p.Phe116Tyr)
c.344T>A (p.Phe115Tyr)
 gnomAD v4
1g.99862358T>CCA341331972AGLc.395T>C (p.Phe132Ser)
n.606T>C
c.347T>C (p.Phe116Ser)
c.344T>C (p.Phe115Ser)
 dbSNP gnomAD v2 gnomAD v4
1g.99862358T>GCA341331976AGLc.395T>G (p.Phe132Cys)
n.606T>G
c.347T>G (p.Phe116Cys)
c.344T>G (p.Phe115Cys)
1g.99862358T=CA1183924463AGLc.395T= (p.Phe132=)
n.606T=
c.347T= (p.Phe116=)
c.344T= (p.Phe115=)
1g.99862359T>ACA341331989AGLc.396T>A (p.Phe132Leu)
n.607T>A
c.348T>A (p.Phe116Leu)
c.345T>A (p.Phe115Leu)
1g.99862359T>CCA419095762AGLc.396T>C (p.Phe132=)
n.607T>C
c.348T>C (p.Phe116=)
c.345T>C (p.Phe115=)
1g.99862359T>GCA341331994AGLc.396T>G (p.Phe132Leu)
n.607T>G
c.348T>G (p.Phe116Leu)
c.345T>G (p.Phe115Leu)
1g.99862360T>ACA341332000AGLc.397T>A (p.Leu133Ile)
n.608T>A
c.349T>A (p.Leu117Ile)
c.346T>A (p.Leu116Ile)
1g.99862360T>CCA419095769AGLc.397T>C (p.Leu133=)
n.608T>C
c.349T>C (p.Leu117=)
c.346T>C (p.Leu116=)
1g.99862360T>GCA341332023AGLc.397T>G (p.Leu133Val)
n.608T>G
c.349T>G (p.Leu117Val)
c.346T>G (p.Leu116Val)
1g.99862361T>ACA341332053AGLc.398T>A (p.Leu133Ter)
n.609T>A
c.350T>A (p.Leu117Ter)
c.347T>A (p.Leu116Ter)
1g.99862361T>CCA341332048AGLc.398T>C (p.Leu133Ser)
n.609T>C
c.350T>C (p.Leu117Ser)
c.347T>C (p.Leu116Ser)
1g.99862361T>GCA341332027AGLc.398T>G (p.Leu133Ter)
n.609T>G
c.350T>G (p.Leu117Ter)
c.347T>G (p.Leu116Ter)
1g.99862362A>CCA341332067AGLc.399A>C (p.Leu133Phe)
n.610A>C
c.351A>C (p.Leu117Phe)
c.348A>C (p.Leu116Phe)
1g.99862362A>GCA419095790AGLc.399A>G (p.Leu133=)
n.610A>G
c.351A>G (p.Leu117=)
c.348A>G (p.Leu116=)
1g.99862362A>TCA341332069AGLc.399A>T (p.Leu133Phe)
n.610A>T
c.351A>T (p.Leu117Phe)
c.348A>T (p.Leu116Phe)
1g.99862363G>ACA341332070AGLc.400G>A (p.Ala134Thr)
n.611G>A
c.352G>A (p.Ala118Thr)
c.349G>A (p.Ala117Thr)
 gnomAD v4
1g.99862363G>CCA341332073AGLc.400G>C (p.Ala134Pro)
n.611G>C
c.352G>C (p.Ala118Pro)
c.349G>C (p.Ala117Pro)
1g.99862363G>TCA341332075AGLc.400G>T (p.Ala134Ser)
n.611G>T
c.352G>T (p.Ala118Ser)
c.349G>T (p.Ala117Ser)
1g.99862364C>ACA341332082AGLc.401C>A (p.Ala134Asp)
n.612C>A
c.353C>A (p.Ala118Asp)
c.350C>A (p.Ala117Asp)
1g.99862364C>GCA341332083AGLc.401C>G (p.Ala134Gly)
n.612C>G
c.353C>G (p.Ala118Gly)
c.350C>G (p.Ala117Gly)
 ClinVar
1g.99862364C>TCA341332084AGLc.401C>T (p.Ala134Val)
n.612C>T
c.353C>T (p.Ala118Val)
c.350C>T (p.Ala117Val)
1g.99862364_99862498delinsTATTACATCA2697552540AGLc.401_460+75delinsTATTACAT
n.612_671+75delinsTATTACAT
c.353_412+75delinsTATTACAT
c.350_409+75delinsTATTACAT
 ClinVar
1g.99862365T>ACA419095803AGLc.402T>A (p.Ala134=)
n.613T>A
c.354T>A (p.Ala118=)
c.351T>A (p.Ala117=)
 gnomAD v4
1g.99862365T>CCA419095808AGLc.402T>C (p.Ala134=)
n.613T>C
c.354T>C (p.Ala118=)
c.351T>C (p.Ala117=)
 ClinVar
1g.99862365T>GCA419095801AGLc.402T>G (p.Ala134=)
n.613T>G
c.354T>G (p.Ala118=)
c.351T>G (p.Ala117=)
1g.99862366A=CA1183924465AGLc.403A= (p.Lys135=)
n.614A=
c.355A= (p.Lys119=)
c.352A= (p.Lys118=)
1g.99862366A>CCA341332086AGLc.403A>C (p.Lys135Gln)
n.614A>C
c.355A>C (p.Lys119Gln)
c.352A>C (p.Lys118Gln)
1g.99862366A>GCA966155AGLc.403A>G (p.Lys135Glu)
n.614A>G
c.355A>G (p.Lys119Glu)
c.352A>G (p.Lys118Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862366A>TCA341332093AGLc.403A>T (p.Lys135Ter)
n.614A>T
c.355A>T (p.Lys119Ter)
c.352A>T (p.Lys118Ter)
1g.99862367A=CA1183924467AGLc.404A= (p.Lys135=)
n.615A=
c.356A= (p.Lys119=)
c.353A= (p.Lys118=)
1g.99862367A>CCA341332126AGLc.404A>C (p.Lys135Thr)
n.615A>C
c.356A>C (p.Lys119Thr)
c.353A>C (p.Lys118Thr)
1g.99862367A>GCA341332117AGLc.404A>G (p.Lys135Arg)
n.615A>G
c.356A>G (p.Lys119Arg)
c.353A>G (p.Lys118Arg)
 dbSNP gnomAD v4
1g.99862367A>TCA341332105AGLc.404A>T (p.Lys135Met)
n.615A>T
c.356A>T (p.Lys119Met)
c.353A>T (p.Lys118Met)
1g.99862368G>ACA419095818AGLc.405G>A (p.Lys135=)
n.616G>A
c.357G>A (p.Lys119=)
c.354G>A (p.Lys118=)
 dbSNP
1g.99862368G>CCA341332135AGLc.405G>C (p.Lys135Asn)
n.616G>C
c.357G>C (p.Lys119Asn)
c.354G>C (p.Lys118Asn)
 ClinVar dbSNP gnomAD v4
1g.99862368G=CA1183924472AGLc.405G= (p.Lys135=)
n.616G=
c.357G= (p.Lys119=)
c.354G= (p.Lys118=)
1g.99862368G>TCA341332137AGLc.405G>T (p.Lys135Asn)
n.616G>T
c.357G>T (p.Lys119Asn)
c.354G>T (p.Lys118Asn)
1g.99862368_99862372delinsGTGTTCA1183924471AGLc.405_409delinsGTGTT (p.Lys135=)
n.616_620delinsGTGTT
c.357_361delinsGTGTT (p.Lys119=)
c.354_358delinsGTGTT (p.Lys118=)
1g.99862369T>ACA341332138AGLc.406T>A (p.Cys136Ser)
n.617T>A
c.358T>A (p.Cys120Ser)
c.355T>A (p.Cys119Ser)
1g.99862369T>CCA27561399AGLc.406T>C (p.Cys136Arg)
n.617T>C
c.358T>C (p.Cys120Arg)
c.355T>C (p.Cys119Arg)
 dbSNP gnomAD v2 gnomAD v4
1g.99862369T>GCA341332150AGLc.406T>G (p.Cys136Gly)
n.617T>G
c.358T>G (p.Cys120Gly)
c.355T>G (p.Cys119Gly)
1g.99862369T=CA1144143767AGLc.406T= (p.Cys136=)
n.617T=
c.358T= (p.Cys120=)
c.355T= (p.Cys119=)
1g.99862371_99862374delCA966156AGLc.408_411del (p.Cys136TrpfsTer21)
n.619_622del
c.360_363del (p.Cys120TrpfsTer21)
c.357_360del (p.Cys119TrpfsTer21)
 dbSNP ExAC gnomAD v2
1g.99862370G>ACA341332174AGLc.407G>A (p.Cys136Tyr)
n.618G>A
c.359G>A (p.Cys120Tyr)
c.356G>A (p.Cys119Tyr)
 dbSNP
1g.99862370G>CCA341332175AGLc.407G>C (p.Cys136Ser)
n.618G>C
c.359G>C (p.Cys120Ser)
c.356G>C (p.Cys119Ser)
1g.99862370G=CA1183924479AGLc.407G= (p.Cys136=)
n.618G=
c.359G= (p.Cys120=)
c.356G= (p.Cys119=)
1g.99862370G>TCA341332176AGLc.407G>T (p.Cys136Phe)
n.618G>T
c.359G>T (p.Cys120Phe)
c.356G>T (p.Cys119Phe)
1g.99862371T>ACA341332177AGLc.408T>A (p.Cys136Ter)
n.619T>A
c.360T>A (p.Cys120Ter)
c.357T>A (p.Cys119Ter)
 ClinVar
1g.99862371T>CCA419095827AGLc.408T>C (p.Cys136=)
n.619T>C
c.360T>C (p.Cys120=)
c.357T>C (p.Cys119=)
1g.99862371T>GCA341332181AGLc.408T>G (p.Cys136Trp)
n.619T>G
c.360T>G (p.Cys120Trp)
c.357T>G (p.Cys119Trp)
1g.99862372T>ACA341332195AGLc.409T>A (p.Leu137Met)
n.620T>A
c.361T>A (p.Leu121Met)
c.358T>A (p.Leu120Met)
1g.99862372T>CCA419095829AGLc.409T>C (p.Leu137=)
n.620T>C
c.361T>C (p.Leu121=)
c.358T>C (p.Leu120=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862372T>GCA341332200AGLc.409T>G (p.Leu137Val)
n.620T>G
c.361T>G (p.Leu121Val)
c.358T>G (p.Leu120Val)
1g.99862372T=CA1183924482AGLc.409T= (p.Leu137=)
n.620T=
c.361T= (p.Leu121=)
c.358T= (p.Leu120=)
1g.99862373T>ACA341332208AGLc.410T>A (p.Leu137Ter)
n.621T>A
c.362T>A (p.Leu121Ter)
c.359T>A (p.Leu120Ter)
1g.99862373T>CCA341332206AGLc.410T>C (p.Leu137Ser)
n.621T>C
c.362T>C (p.Leu121Ser)
c.359T>C (p.Leu120Ser)
1g.99862373T>GCA341332207AGLc.410T>G (p.Leu137Trp)
n.621T>G
c.362T>G (p.Leu121Trp)
c.359T>G (p.Leu120Trp)
1g.99862373_99862376delCA419095831AGLc.410_413del (p.Leu137TyrfsTer20)
n.621_624del
c.362_365del (p.Leu121TyrfsTer20)
c.359_362del (p.Leu120TyrfsTer20)
 ClinVar dbSNP gnomAD v4
1g.99862374G>ACA966157AGLc.411G>A (p.Leu137=)
n.622G>A
c.363G>A (p.Leu121=)
c.360G>A (p.Leu120=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862374G>CCA341332211AGLc.411G>C (p.Leu137Phe)
n.622G>C
c.363G>C (p.Leu121Phe)
c.360G>C (p.Leu120Phe)
 dbSNP
1g.99862374G=CA1183924485AGLc.411G= (p.Leu137=)
n.622G=
c.363G= (p.Leu121=)
c.360G= (p.Leu120=)
1g.99862374G>TCA341332238AGLc.411G>T (p.Leu137Phe)
n.622G>T
c.363G>T (p.Leu121Phe)
c.360G>T (p.Leu120Phe)
1g.99862375G>ACA966158AGLc.412G>A (p.Gly138Arg)
n.623G>A
c.364G>A (p.Gly122Arg)
c.361G>A (p.Gly121Arg)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862375G>CCA341332261AGLc.412G>C (p.Gly138Arg)
n.623G>C
c.364G>C (p.Gly122Arg)
c.361G>C (p.Gly121Arg)
1g.99862375G=CA1148432147AGLc.412G= (p.Gly138=)
n.623G=
c.364G= (p.Gly122=)
c.361G= (p.Gly121=)
1g.99862375G>TCA341332273AGLc.412G>T (p.Gly138Ter)
n.623G>T
c.364G>T (p.Gly122Ter)
c.361G>T (p.Gly121Ter)
1g.99862376G>ACA27561409AGLc.413G>A (p.Gly138Glu)
n.624G>A
c.365G>A (p.Gly122Glu)
c.362G>A (p.Gly121Glu)
 ClinVar dbSNP gnomAD v3 gnomAD v4
1g.99862376G>CCA341332288AGLc.413G>C (p.Gly138Ala)
n.624G>C
c.365G>C (p.Gly122Ala)
c.362G>C (p.Gly121Ala)
1g.99862376G=CA1183924492AGLc.413G= (p.Gly138=)
n.624G=
c.365G= (p.Gly122=)
c.362G= (p.Gly121=)
1g.99862376G>TCA341332290AGLc.413G>T (p.Gly138Val)
n.624G>T
c.365G>T (p.Gly122Val)
c.362G>T (p.Gly121Val)
1g.99862377A>CCA419095839AGLc.414A>C (p.Gly138=)
n.625A>C
c.366A>C (p.Gly122=)
c.363A>C (p.Gly121=)
1g.99862377A>GCA419095840AGLc.414A>G (p.Gly138=)
n.625A>G
c.366A>G (p.Gly122=)
c.363A>G (p.Gly121=)
 ClinVar
1g.99862377A>TCA419095841AGLc.414A>T (p.Gly138=)
n.625A>T
c.366A>T (p.Gly122=)
c.363A>T (p.Gly121=)
 gnomAD v4
1g.99862378C>ACA341332298AGLc.415C>A (p.Pro139Thr)
n.626C>A
c.367C>A (p.Pro123Thr)
c.364C>A (p.Pro122Thr)
1g.99862378C>GCA341332301AGLc.415C>G (p.Pro139Ala)
n.626C>G
c.367C>G (p.Pro123Ala)
c.364C>G (p.Pro122Ala)
1g.99862378C>TCA341332310AGLc.415C>T (p.Pro139Ser)
n.626C>T
c.367C>T (p.Pro123Ser)
c.364C>T (p.Pro122Ser)
1g.99862379C>ACA341332332AGLc.416C>A (p.Pro139His)
n.627C>A
c.368C>A (p.Pro123His)
c.365C>A (p.Pro122His)
1g.99862379C>GCA341332339AGLc.416C>G (p.Pro139Arg)
n.627C>G
c.368C>G (p.Pro123Arg)
c.365C>G (p.Pro122Arg)
1g.99862379C>TCA341332321AGLc.416C>T (p.Pro139Leu)
n.627C>T
c.368C>T (p.Pro123Leu)
c.365C>T (p.Pro122Leu)
 COSMIC
1g.99862379_99862380delinsCTCA1183924493AGLc.416_417delinsCT (p.Pro139=)
n.627_628delinsCT
c.368_369delinsCT (p.Pro123=)
c.365_366delinsCT (p.Pro122=)
1g.99862380T>ACA419095846AGLc.417T>A (p.Pro139=)
n.628T>A
c.369T>A (p.Pro123=)
c.366T>A (p.Pro122=)
1g.99862380T>CCA419095845AGLc.417T>C (p.Pro139=)
n.628T>C
c.369T>C (p.Pro123=)
c.366T>C (p.Pro122=)
1g.99862380T>GCA419095844AGLc.417T>G (p.Pro139=)
n.628T>G
c.369T>G (p.Pro123=)
c.366T>G (p.Pro122=)
1g.99862383delCA524878373AGLc.420del (p.Phe140LeufsTer18)
n.631del
c.372del (p.Phe124LeufsTer18)
c.369del (p.Phe123LeufsTer18)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862381T>ACA341332354AGLc.418T>A (p.Phe140Ile)
n.629T>A
c.370T>A (p.Phe124Ile)
c.367T>A (p.Phe123Ile)
1g.99862381T>CCA341332347AGLc.418T>C (p.Phe140Leu)
n.629T>C
c.370T>C (p.Phe124Leu)
c.367T>C (p.Phe123Leu)
1g.99862381T>GCA341332359AGLc.418T>G (p.Phe140Val)
n.629T>G
c.370T>G (p.Phe124Val)
c.367T>G (p.Phe123Val)
1g.99862382T>ACA341332362AGLc.419T>A (p.Phe140Tyr)
n.630T>A
c.371T>A (p.Phe124Tyr)
c.368T>A (p.Phe123Tyr)
1g.99862382T>CCA341332365AGLc.419T>C (p.Phe140Ser)
n.630T>C
c.371T>C (p.Phe124Ser)
c.368T>C (p.Phe123Ser)
1g.99862382T>GCA341332366AGLc.419T>G (p.Phe140Cys)
n.630T>G
c.371T>G (p.Phe124Cys)
c.368T>G (p.Phe123Cys)
1g.99862382_99862385delinsTTGACA1183924502AGLc.419_422delinsTTGA (p.Phe140=)
n.630_633delinsTTGA
c.371_374delinsTTGA (p.Phe124=)
c.368_371delinsTTGA (p.Phe123=)
1g.99862383_99862386delCA913046862AGLc.420_423del (p.Phe140LeufsTer17)
n.631_634del
c.372_375del (p.Phe124LeufsTer17)
c.369_372del (p.Phe123LeufsTer17)
1g.99862383T>ACA341332369AGLc.420T>A (p.Phe140Leu)
n.631T>A
c.372T>A (p.Phe124Leu)
c.369T>A (p.Phe123Leu)
1g.99862383T>CCA419095848AGLc.420T>C (p.Phe140=)
n.631T>C
c.372T>C (p.Phe124=)
c.369T>C (p.Phe123=)
1g.99862383T>GCA341332375AGLc.420T>G (p.Phe140Leu)
n.631T>G
c.372T>G (p.Phe124Leu)
c.369T>G (p.Phe123Leu)
1g.99862386_99862388delCA524878374AGLc.423_425del (p.Asp141del)
n.634_636del
c.375_377del (p.Asp125del)
c.372_374del (p.Asp124del)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.99862384G>ACA341332385AGLc.421G>A (p.Asp141Asn)
n.632G>A
c.373G>A (p.Asp125Asn)
c.370G>A (p.Asp124Asn)
 dbSNP gnomAD v2 gnomAD v4
1g.99862384G>CCA341332391AGLc.421G>C (p.Asp141His)
n.632G>C
c.373G>C (p.Asp125His)
c.370G>C (p.Asp124His)
1g.99862384G=CA1183924509AGLc.421G= (p.Asp141=)
n.632G=
c.373G= (p.Asp125=)
c.370G= (p.Asp124=)
1g.99862384G>TCA341332403AGLc.421G>T (p.Asp141Tyr)
n.632G>T
c.373G>T (p.Asp125Tyr)
c.370G>T (p.Asp124Tyr)
 gnomAD v4
1g.99862385A=CA1183924512AGLc.422A= (p.Asp141=)
n.633A=
c.374A= (p.Asp125=)
c.371A= (p.Asp124=)
1g.99862385A>CCA341332409AGLc.422A>C (p.Asp141Ala)
n.633A>C
c.374A>C (p.Asp125Ala)
c.371A>C (p.Asp124Ala)
 gnomAD v4
1g.99862385A>GCA966159AGLc.422A>G (p.Asp141Gly)
n.633A>G
c.374A>G (p.Asp125Gly)
c.371A>G (p.Asp124Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862385A>TCA341332414AGLc.422A>T (p.Asp141Val)
n.633A>T
c.374A>T (p.Asp125Val)
c.371A>T (p.Asp124Val)
1g.99862386T>ACA341332418AGLc.423T>A (p.Asp141Glu)
n.634T>A
c.375T>A (p.Asp125Glu)
c.372T>A (p.Asp124Glu)
1g.99862386T>CCA419095858AGLc.423T>C (p.Asp141=)
n.634T>C
c.375T>C (p.Asp125=)
c.372T>C (p.Asp124=)
1g.99862386T>GCA341332425AGLc.423T>G (p.Asp141Glu)
n.634T>G
c.375T>G (p.Asp125Glu)
c.372T>G (p.Asp124Glu)
1g.99862387G>ACA341332427AGLc.424G>A (p.Glu142Lys)
n.635G>A
c.376G>A (p.Glu126Lys)
c.373G>A (p.Glu125Lys)
1g.99862387G>CCA341332432AGLc.424G>C (p.Glu142Gln)
n.635G>C
c.376G>C (p.Glu126Gln)
c.373G>C (p.Glu125Gln)
1g.99862387G>TCA341332428AGLc.424G>T (p.Glu142Ter)
n.635G>T
c.376G>T (p.Glu126Ter)
c.373G>T (p.Glu125Ter)
1g.99862388A>CCA341332445AGLc.425A>C (p.Glu142Ala)
n.636A>C
c.377A>C (p.Glu126Ala)
c.374A>C (p.Glu125Ala)
1g.99862388A>GCA341332447AGLc.425A>G (p.Glu142Gly)
n.636A>G
c.377A>G (p.Glu126Gly)
c.374A>G (p.Glu125Gly)
1g.99862388A>TCA341332462AGLc.425A>T (p.Glu142Val)
n.636A>T
c.377A>T (p.Glu126Val)
c.374A>T (p.Glu125Val)
1g.99862389A>CCA341332468AGLc.426A>C (p.Glu142Asp)
n.637A>C
c.378A>C (p.Glu126Asp)
c.375A>C (p.Glu125Asp)
1g.99862389A>GCA419095866AGLc.426A>G (p.Glu142=)
n.637A>G
c.378A>G (p.Glu126=)
c.375A>G (p.Glu125=)
1g.99862389A>TCA341332471AGLc.426A>T (p.Glu142Asp)
n.637A>T
c.378A>T (p.Glu126Asp)
c.375A>T (p.Glu125Asp)
1g.99862390T>ACA341332482AGLc.427T>A (p.Trp143Arg)
n.638T>A
c.379T>A (p.Trp127Arg)
c.376T>A (p.Trp126Arg)
1g.99862390T>CCA341332483AGLc.427T>C (p.Trp143Arg)
n.638T>C
c.379T>C (p.Trp127Arg)
c.376T>C (p.Trp126Arg)
1g.99862390T>GCA341332484AGLc.427T>G (p.Trp143Gly)
n.638T>G
c.379T>G (p.Trp127Gly)
c.376T>G (p.Trp126Gly)
1g.99862391G>ACA10575460AGLc.428G>A (p.Trp143Ter)
n.639G>A
c.380G>A (p.Trp127Ter)
c.377G>A (p.Trp126Ter)
1g.99862391G>CCA341332487AGLc.428G>C (p.Trp143Ser)
n.639G>C
c.380G>C (p.Trp127Ser)
c.377G>C (p.Trp126Ser)
1g.99862391G=CA1183924516AGLc.428G= (p.Trp143=)
n.639G=
c.380G= (p.Trp127=)
c.377G= (p.Trp126=)
1g.99862391G>TCA966160AGLc.428G>T (p.Trp143Leu)
n.639G>T
c.380G>T (p.Trp127Leu)
c.377G>T (p.Trp126Leu)
 dbSNP ExAC gnomAD v2 gnomAD v4
1g.99862392G>ACA341332508AGLc.429G>A (p.Trp143Ter)
n.640G>A
c.381G>A (p.Trp127Ter)
c.378G>A (p.Trp126Ter)
1g.99862392G>CCA341332504AGLc.429G>C (p.Trp143Cys)
n.640G>C
c.381G>C (p.Trp127Cys)
c.378G>C (p.Trp126Cys)
1g.99862392G>TCA341332498AGLc.429G>T (p.Trp143Cys)
n.640G>T
c.381G>T (p.Trp127Cys)
c.378G>T (p.Trp126Cys)
1g.99862393G>ACA341332528AGLc.430G>A (p.Glu144Lys)
n.641G>A
c.382G>A (p.Glu128Lys)
c.379G>A (p.Glu127Lys)
 dbSNP
1g.99862393G>CCA341332513AGLc.430G>C (p.Glu144Gln)
n.641G>C
c.382G>C (p.Glu128Gln)
c.379G>C (p.Glu127Gln)
1g.99862393G=CA1183924519AGLc.430G= (p.Glu144=)
n.641G=
c.382G= (p.Glu128=)
c.379G= (p.Glu127=)
1g.99862393G>TCA341332518AGLc.430G>T (p.Glu144Ter)
n.641G>T
c.382G>T (p.Glu128Ter)
c.379G>T (p.Glu127Ter)
1g.99862394A>CCA341332533AGLc.431A>C (p.Glu144Ala)
n.642A>C
c.383A>C (p.Glu128Ala)
c.380A>C (p.Glu127Ala)
 gnomAD v4
1g.99862394A>GCA341332534AGLc.431A>G (p.Glu144Gly)
n.642A>G
c.383A>G (p.Glu128Gly)
c.380A>G (p.Glu127Gly)
1g.99862394A>TCA341332535AGLc.431A>T (p.Glu144Val)
n.642A>T
c.383A>T (p.Glu128Val)
c.380A>T (p.Glu127Val)
1g.99862395A>CCA341332549AGLc.432A>C (p.Glu144Asp)
n.643A>C
c.384A>C (p.Glu128Asp)
c.381A>C (p.Glu127Asp)
 gnomAD v4
1g.99862395A>GCA419095872AGLc.432A>G (p.Glu144=)
n.643A>G
c.384A>G (p.Glu128=)
c.381A>G (p.Glu127=)
1g.99862395A>TCA341332559AGLc.432A>T (p.Glu144Asp)
n.643A>T
c.384A>T (p.Glu128Asp)
c.381A>T (p.Glu127Asp)
1g.99862396A>CCA341332572AGLc.433A>C (p.Ser145Arg)
n.644A>C
c.385A>C (p.Ser129Arg)
c.382A>C (p.Ser128Arg)
1g.99862396A>GCA341332576AGLc.433A>G (p.Ser145Gly)
n.644A>G
c.385A>G (p.Ser129Gly)
c.382A>G (p.Ser128Gly)
1g.99862396A>TCA341332577AGLc.433A>T (p.Ser145Cys)
n.644A>T
c.385A>T (p.Ser129Cys)
c.382A>T (p.Ser128Cys)
1g.99862397G>ACA341332591AGLc.434G>A (p.Ser145Asn)
n.645G>A
c.386G>A (p.Ser129Asn)
c.383G>A (p.Ser128Asn)
1g.99862397G>CCA341332601AGLc.434G>C (p.Ser145Thr)
n.645G>C
c.386G>C (p.Ser129Thr)
c.383G>C (p.Ser128Thr)
1g.99862397G>TCA341332604AGLc.434G>T (p.Ser145Ile)
n.645G>T
c.386G>T (p.Ser129Ile)
c.383G>T (p.Ser128Ile)
1g.99862398C>ACA341332619AGLc.435C>A (p.Ser145Arg)
n.646C>A
c.387C>A (p.Ser129Arg)
c.384C>A (p.Ser128Arg)
1g.99862398C=CA1183924522AGLc.435C= (p.Ser145=)
n.646C=
c.387C= (p.Ser129=)
c.384C= (p.Ser128=)
1g.99862398C>GCA341332613AGLc.435C>G (p.Ser145Arg)
n.646C>G
c.387C>G (p.Ser129Arg)
c.384C>G (p.Ser128Arg)
1g.99862398C>TCA419095873AGLc.435C>T (p.Ser145=)
n.646C>T
c.387C>T (p.Ser129=)
c.384C>T (p.Ser128=)
1g.99862399A>CCA419095874AGLc.436A>C (p.Arg146=)
n.647A>C
c.388A>C (p.Arg130=)
c.385A>C (p.Arg129=)
1g.99862399A>GCA341332625AGLc.436A>G (p.Arg146Gly)
n.647A>G
c.388A>G (p.Arg130Gly)
c.385A>G (p.Arg129Gly)
1g.99862399A>TCA341332626AGLc.436A>T (p.Arg146Ter)
n.647A>T
c.388A>T (p.Arg130Ter)
c.385A>T (p.Arg129Ter)
1g.99862399dupCA1183924523AGLc.436dup (p.Arg146LysfsTer3)
n.647dup
c.388dup (p.Arg130LysfsTer3)
c.385dup (p.Arg129LysfsTer3)
 ClinVar dbSNP
1g.99862399_99862400delinsAGCA1183924524AGLc.436_437delinsAG (p.Arg146=)
n.647_648delinsAG
c.388_389delinsAG (p.Arg130=)
c.385_386delinsAG (p.Arg129=)
1g.99862400delCA16040825AGLc.437del (p.Arg146AsnfsTer12)
n.648del
c.389del (p.Arg130AsnfsTer12)
c.386del (p.Arg129AsnfsTer12)
 ClinVar dbSNP
1g.99862400G>ACA341332628AGLc.437G>A (p.Arg146Lys)
n.648G>A
c.389G>A (p.Arg130Lys)
c.386G>A (p.Arg129Lys)
1g.99862400G>CCA341332632AGLc.437G>C (p.Arg146Thr)
n.648G>C
c.389G>C (p.Arg130Thr)
c.386G>C (p.Arg129Thr)
1g.99862400G>TCA341332657AGLc.437G>T (p.Arg146Ile)
n.648G>T
c.389G>T (p.Arg130Ile)
c.386G>T (p.Arg129Ile)
 ClinVar
1g.99862401A=CA1183924530AGLc.438A= (p.Arg146=)
n.649A=
c.390A= (p.Arg130=)
c.387A= (p.Arg129=)
1g.99862401A>CCA341332679AGLc.438A>C (p.Arg146Ser)
n.649A>C
c.390A>C (p.Arg130Ser)
c.387A>C (p.Arg129Ser)
1g.99862401A>GCA419095875AGLc.438A>G (p.Arg146=)
n.649A>G
c.390A>G (p.Arg130=)
c.387A>G (p.Arg129=)
1g.99862401A>TCA341332681AGLc.438A>T (p.Arg146Ser)
n.649A>T
c.390A>T (p.Arg130Ser)
c.387A>T (p.Arg129Ser)
 dbSNP
1g.99862402C>ACA341332684AGLc.439C>A (p.Leu147Ile)
n.650C>A
c.391C>A (p.Leu131Ile)
c.388C>A (p.Leu130Ile)
1g.99862402C=CA1183924532AGLc.439C= (p.Leu147=)
n.650C=
c.391C= (p.Leu131=)
c.388C= (p.Leu130=)
1g.99862402C>GCA341332694AGLc.439C>G (p.Leu147Val)
n.650C>G
c.391C>G (p.Leu131Val)
c.388C>G (p.Leu130Val)
1g.99862402C>TCA341332701AGLc.439C>T (p.Leu147Phe)
n.650C>T
c.391C>T (p.Leu131Phe)
c.388C>T (p.Leu130Phe)
 dbSNP gnomAD v3 gnomAD v4 COSMIC
1g.99862402_99862404delinsCTTCA1183924534AGLc.439_441delinsCTT (p.Leu147=)
n.650_652delinsCTT
c.391_393delinsCTT (p.Leu131=)
c.388_390delinsCTT (p.Leu130=)
1g.99862403T>ACA341332707AGLc.440T>A (p.Leu147His)
n.651T>A
c.392T>A (p.Leu131His)
c.389T>A (p.Leu130His)
1g.99862403T>CCA341332714AGLc.440T>C (p.Leu147Pro)
n.651T>C
c.392T>C (p.Leu131Pro)
c.389T>C (p.Leu130Pro)
1g.99862403T>GCA341332717AGLc.440T>G (p.Leu147Arg)
n.651T>G
c.392T>G (p.Leu131Arg)
c.389T>G (p.Leu130Arg)
1g.99862403_99862404delCA524878375AGLc.440_441del (p.Leu147GlnfsTer23)
n.651_652del
c.392_393del (p.Leu131GlnfsTer23)
c.389_390del (p.Leu130GlnfsTer23)
 ClinVar dbSNP gnomAD v2 gnomAD v4
1g.99862404T>ACA419095877AGLc.441T>A (p.Leu147=)
n.652T>A
c.393T>A (p.Leu131=)
c.390T>A (p.Leu130=)
1g.99862404T>CCA419095878AGLc.441T>C (p.Leu147=)
n.652T>C
c.393T>C (p.Leu131=)
c.390T>C (p.Leu130=)
1g.99862404T>GCA419095879AGLc.441T>G (p.Leu147=)
n.652T>G
c.393T>G (p.Leu131=)
c.390T>G (p.Leu130=)
 gnomAD v4
1g.99862404_99862405delinsTACA1183924542AGLc.441_442delinsTA (p.Leu147=)
n.652_653delinsTA
c.393_394delinsTA (p.Leu131=)
c.390_391delinsTA (p.Leu130=)
1g.99862405delCA16040826AGLc.442del (p.Arg148GlyfsTer10)
n.653del
c.394del (p.Arg132GlyfsTer10)
c.391del (p.Arg131GlyfsTer10)
 ClinVar dbSNP
1g.99862405A=CA1147819699AGLc.442A= (p.Arg148=)
n.653A=
c.394A= (p.Arg132=)
c.391A= (p.Arg131=)
1g.99862405A>CCA419095880AGLc.442A>C (p.Arg148=)
n.653A>C
c.394A>C (p.Arg132=)
c.391A>C (p.Arg131=)
1g.99862405A>GCA966161AGLc.442A>G (p.Arg148Gly)
n.653A>G
c.394A>G (p.Arg132Gly)
c.391A>G (p.Arg131Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.99862405A>TCA341332742AGLc.442A>T (p.Arg148Trp)
n.653A>T
c.394A>T (p.Arg132Trp)
c.391A>T (p.Arg131Trp)

Number of alleles fetched